Results 131 to 140 of about 2,881 (205)

The intragenic microRNA miR199A1 in the dynamin 2 gene contributes to the pathology of X-linked centronuclear myopathy. [PDF]

J Biol Chem, 2020
Chen X, Gao YQ, Zheng YY, Wang W, Wang P, Liang J, Zhao W, Tao T, Sun J, Wei L, Li Y, Zhou Y, Gan Z, Zhang X, Chen HQ, Zhu MS.   +15 more
europepmc   +1 more source

[Clinical and genetic features of 5 neonates with centronuclear myopathy caused by MTM1 gene variation]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Xie T, Ge JJ, Zhang ZM, Wu DW, Xu YP, Shi LP, Ma XL, Chen Z.   +7 more
europepmc   +1 more source

Cardiac-Specific Disruption of Bin1 in Mice Enables a Model of Stress- and Age-Associated Dilated Cardiomyopathy [PDF]

, 2015
Chang, MY, Harris, DM, Heletz, I, Koch, WJ, Laury-Kleintop, LD, Mulgrew, JR, Muller, AJ, Nedelcoviciu, RA, Prendergast, GC, Schneider, MD   +9 more
core   +1 more source

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Acta Neuropathologica Communications, 2018
Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors, Jocelyn Laporte   +9 more
doaj   +1 more source

The synaptic availability of GluA1 is reduced in hippocampal neurons of a murine model of dynamin-2 linked autosomal dominant centronuclear myopathy. [PDF]

Sci Prog
Flores-Muñoz C, Labraña-Allende M, Mattar-Araos M, Gomez-Soto B, Silva-Guzman J, Prado-Vega L, Arriagada-Díaz J, Guerra-Fernández MJ, Bevilacqua JA, Bitoun M, Cárdenas AM, Ardiles AO, Gonzalez-Jamett AM.   +12 more
europepmc   +1 more source

Mitochondrial alterations in dynamin 2-related centronuclear myopathy Alterações mitocondriais na miopatia centronuclear relacionadas a dinamina 2

Arquivos de Neuro-Psiquiatria, 2009
Edmar Zanoteli, Naja Vergani, Yvan Campos, Mariz Vainzof, Acary S.B. Oliveira, Alessandra d'Azzo   +5 more
doaj   +1 more source

Centronuclear Myopathy 1 [PDF]

, 2020
openaire   +1 more source

Dynamic instability of microtubules regulated by Dynamin2 and Charcot-Marie-Tooth disease [PDF]

, 2010
Takei, Kohji, Tanabe, Kenji
core   +1 more source

A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission. [PDF]

Neuromuscul Disord, 2019
Nicolau S, Liewluck T, Shen XM, Selcen D, Engel AG, Milone M.   +5 more
europepmc   +1 more source

31 | Exon skipping peptide-conjugated morpholinos downregulate dynamin 2 to rescue centronuclear myopathy

European Journal of Translational Myology
Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle weakness and disorganization of myofibers. These conditions can result from dominant mutations in the DNM2 gene encoding the GTPase dynamin, making them potential ...
Interuniversity Institute of Myology
doaj